rs59291670

This variant is located in the GFAP gene.

GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

glial fibrillary acidic protein measurement

Allele T
OR 0.23
p 6.0e-34
N 47,745
Large GWAS
European

ClinVar annotation

Benign★★★
9 submitters14 publications

not provided; not specified

View on ClinVar →

About GFAP

This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]

View all GFAP variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…